Van Den Bosch syndrome

van Den Bosch syndrome is a rare X-linked syndrome like intellectual disability.[1][2][3][4] It may be caused by a small X-chromosome deletion.[1]

Van Den Bosch syndrome
Other namesMental deficiency, choroideremia, acrokeratosis verruciformis, anhidrosis, skeletal deformity

The condition can be detected around infancy.[5]: 1067 

Epidemiology

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According to Orphanet the condition occurs in 1 in 1 million people.[2]

It has been reported in only one family.[6]

Symptoms

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Symptoms for the condition include.[1]

  • Abnormal electroretinogram
  • Acrokeratosis
  • Anhidrotic ectodermal dysplasia
  • Choroideremia
  • Heat intolerance
  • High myopia
  • Horizontal nystagmus
  • Intellectual disability
  • Recurrent respiratory infections
  • Recurrent skin infections
  • Scapular winging
  • Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
  • skeletal abnormality
  • Anhidrosis
  • Contiguous gene syndrome
  • X-linked inheritance

History

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It was first described by J. Van den Bosch in 1959.[7] He reported the condition in 2 brothers. The condition was found in more males spanning three generations.[8] According to Orphanet there have been no more descriptions in literature since 1959.[2]

References

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  1. ^ a b c "Van Den Bosch syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-09-13.
  2. ^ a b c "Orphanet: Van den Bosch syndrome". www.orpha.net. Retrieved 2021-09-28.
  3. ^ "Van Den Bosch syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-09-28.
  4. ^ "Van Den Bosch syndrome". www.malacards.org. Retrieved 2021-09-28.
  5. ^ Bergsma, Daniel (2016-06-14). Birth Defects Compendium. Springer. ISBN 978-1-349-05131-1.
  6. ^ "Van Den Bosch Syndrome". DoveMed. Retrieved 2021-11-05.
  7. ^ van den Bosch, J. (1959). "A New Syndrome in Three Generations of a Dutch Family". Ophthalmologica. 137 (6): 422–423. doi:10.1159/000303582. ISSN 1423-0267.
  8. ^ Stevenson, Roger E.; Schwartz, Charles E.; Rogers, R. Curtis (2012-07-12). Atlas of X-Linked Intellectual Disability Syndromes. OUP USA. p. 255. ISBN 978-0-19-981179-3.